Outpatient treatment for the patient with Turcot syndrome includes surveillance for malignancy and treatment of complications within the GI tract, skin, and CNS.

Outpatient treatment for the patient with Cowden disease includes management of thyroid disease, scoliosis, and CNS abnormalities. Patients with Cowden disease have a predisposition for development of cerebellar, breast, skin (Merkel cell), and renal malignancies.

Outpatient treatment for the patient with BRR syndrome includes therapies for neurologic and developmental issues, management of thyroid disease, and surveillance and treatment of underlying malignancies.

Outpatient treatment for the patient with SPS includes frequent surveillance for the development of further polyps and colorectal cancer.

Next:

Further Inpatient Care

Patients with Gardner syndrome may require inpatient management for evaluation and treatment of suspicious lesions.

Patients with Turcot syndrome may require inpatient management for evaluation and treatment of potential malignancies within the CNS and GI tract.

Patients with Peutz-Jeghers syndrome (PJS) may require inpatient treatment of intussusception, significant GI bleeding, and evaluation for malignancy. Both invasive and noninvasive evaluations may be indicated, including endoscopy, biopsy, and resection for diagnosis, with treatment of associated medical issues (eg, anemia) as dictated by the clinical scenario.

Patients with Cowden disease may require inpatient treatment of CNS abnormalities and surgical treatment of malignancies.

Patients with Bannayan-Riley-Ruvalcaba syndrome (BRR) may require inpatient treatment of clinically significant lipomatous and vascular lesions resulting in compromised organ function or circulatory compromise. Patients with Bannayan-Riley-Ruvalcaba syndrome may also require treatment of seizures and evaluation for suspected malignancy.

Patients with SPS may require inpatient treatment for rectal bleeding and surgical treatment of colorectal cancer.

Previous

Next:

Transfer

Patients with polyposis may require transfer for diagnosis and treatment if appropriate support is not available.

Previous

Next:

Deterrence/Prevention

Familial adenomatous polyposis

Well-established guidelines published by the American Gastroenterological Association for surveillance in individuals with FAP, and are discussed above in medical management.
[69]

A study of patients who have had an early colectomy (younger than 14 y) showed that 43% reported daytime or nighttime incontinence, which was associated with lower levels of psychosocial functioning.
[84]

Peutz-Jeghers syndrome

In patients with PJS, establishment of surveillance programs for occult malignancies may permit early detection. Specifics of surveillance are detailed in medical management.

The development of gynecomastia of precocious puberty in a child with PJS merits further diagnostic investigation to exclude underlying testicular or gynecologic malignancy.

PTEN-hamartomatous syndromes

The Cleveland Clinic PTEN Risk Calculation tool calculates a patient’s risk for PTEN mutation risk, which can allow for earlier recognition of the syndrome, initiation of a cancer genetics consultation, and early screening practices for the syndrome’s sequelae.
[74]

Patients have an increased risk for development of breast cancer. Early institution of screening programs and consideration of prophylactic mastectomy should be considered.

In addition, these patients are predisposed to the development of thyroid disease; complications from hamartomatous GI polyps; and cerebellar, skin, and renal malignancies.

Gorlin syndrome

Patients with GS should minimize exposure to ultraviolet light and ionizing radiation to deter the development of basal cell carcinomas.

Establishment of skin self-examination programs may facilitate early detection of basal cell carcinomas.

Patients with GS should have ophthalmologic screening for glaucoma and cataracts.

Patients should have routine dental follow-up care if cysts are present within the jaw.

Women should undergo routine gynecologic examinations.

Serrated polyposis syndrome

Patients with SPS should undergo regular screening colonoscopies for polyp removal and detection of colorectal cancer.

Previous

Next:

Complications

Gardner syndrome

Patients with Gardner syndrome may experience complications from malignancies and from benign lesions, such as mandibular osteomas or dental anomalies.

Turcot syndrome

Patients with Turcot syndrome may experience complications from malignancies.

Peutz-Jeghers syndrome

Patients may develop medical and surgical complications from GI polyps and malignancies. Some reports suggest that approximately one fourth of patients require laparotomy for small bowel intussusception by age 10 years.
[85]

Repeated intestinal resections may result in short-bowel syndrome with total parenteral nutrition (TPN) dependence.

Patients with PJS have an increased risk for the development of malignancies within the GI tract, pancreas, breast, uterus, and testicles.

Complications from GI polyps and malignancies may reduce life expectancy.

PTEN-hamartomatous syndromes

Patients may develop medical and surgical complications from lipomas, vascular lesions, and malignancies.

Lipomas regress with advancing age; however, 2 children have died in early childhood with severe visceral lipomatosis.

Vascular lesions within the CNS have resulted in bleeding with impairment and chronic seizures. Vascular anomalies in other areas can compromise pulmonary function and result in high-output cardiac failure.

Patients with BRR syndrome have a higher incidence of CNS tumors and can develop metaplastic changes within hamartomatous GI polyps.

Mutations within PTEN, a tumor suppressor gene found in patients with BRR syndrome, may predispose to malignant transformation, especially thyroid and breast.

Patients with Turcot syndrome have an increased incidence of gastric and colonic carcinomas, basal cell carcinomas, and CNS malignancies.

Patients with PJS have increased morbidity and mortality rates that arise from the complications of GI polyps and potential development of malignancies.

Patients with PTEN -hamartomatous syndromes have increased morbidity and mortality rates because of complications of cutaneous lesions (eg, lipomas, arteriovenous malformations), increased incidence of CNS abnormalities, as well as malignancies within the cerebellum, breast, skin, and kidneys.

Patients with GS have an increased incidence of malignancies, which include basal cell carcinoma, sarcomas, ovarian carcinomas, medulloblastoma, and astrocytoma.

Patients with SPS have increased risk of colorectal cancer.

Previous

Next:

Patient Education

Patients with FAP and its variants should undergo routine medical examinations and endoscopic and radiologic evaluations for surveillance of potential malignancies. In particular, patients with Turcot syndrome should be routinely screened for basal cell carcinomas, GI cancer and breast cancer.

Routine screening of stools for occult blood and early institution screening for the detection of breast cancer (self-examination, mammography) may improve life expectancy in patients with PJS. The presence of gynecomastia or precious puberty in the patient with suspected PJS should prompt careful evaluation to exclude testicular or gynecologic malignancy.

Early institution of screening for the detection of breast cancer (self-examination, mammography) and awareness of the increased risk for development of malignancy may improve the life expectancy of patients with PTEN -hamartomatous syndromes.

Minimizing exposure to ultraviolet light and ionizing radiation in patients with GS may diminish the potential for development of basal cell carcinomas. Establishment of skin self-detection programs may permit early detection of basal cell carcinomas. Patients should undergo routine ophthalmologic, dental, gynecologic, and medical examinations.

Familial adenomatous polyposis, total colectomy specimen. The colonic mucosa is studded with innumerable sessile and small pedunculated polyps, which involve the entire length of the specimen.

Pedunculated tubular adenoma. Note the contrast between the goblet cell-rich glands along the pedicle of the polyp and in the underlying normal colonic mucosa at the bottom and the dysplastic glands in the polyp proper. The dysplastic glands are more crowded and exhibit decreased mucin production. (Hematoxylin and eosin stain; 1X magnification).

Hamartomatous (Peutz-Jeghers) polyp, small bowel. This pedunculated polyp has a cerebriform appearance due to the arborizing frond-like growth with delicate finger-like projections of the stroma. (Hematoxylin and eosin stain, 1X magnification).

Tables

Contributor Information and Disclosures

Author

Amit A Shah, MD Fellow, Division of Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia; Instructor of Medicine, Department of Medicine, University of Pennsylvania School of Medicine

Stefano Guandalini, MD Founder and Medical Director, Celiac Disease Center, Chief, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Chicago Medical Center; Professor, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, University of Chicago Division of the Biological Sciences, The Pritzker School of Medicine

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching. for: Abbott Nutritional, Abbvie, speakers' bureau.